Cargando…

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

OBJECTIVES: This study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD). METHODS: Three affected members from a family with cerebellar ataxia received full neurological, laboratory and radiological examina...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choi, Jae-Hwan, Kim, Hyun Sung, Oh, Eun Hye, Lee, Jae Hyeok, Cheon, Chong Kun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682283/ https://www.ncbi.nlm.nih.gov/pubmed/36438947 http://dx.doi.org/10.3389/fneur.2022.999419

Ejemplares similares

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
por: Bonaventura, Eleonora, et al.
Publicado: (2023)

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
por: Foschi, Matteo, et al.
Publicado: (2019)

X-linked adrenoleukodystrophy presenting as progressive ataxia and pure cerebellar involvement
por: de Moraes, Marianna Pinheiro Moraes, et al.
Publicado: (2021)

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
por: Zierfuss, Bettina, et al.
Publicado: (2020)

Resting-State Cerebello-Cortical Dysfunction in Parkinson's Disease
por: Palmer, William C., et al.
Publicado: (2021)

Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy
por: Palakuzhiyil, Shruti V, et al.
Publicado: (2020)

Intrafamilial Variability of ADPKD
por: Lanktree, Matthew B., et al.
Publicado: (2019)

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study
por: Lupo, Michela, et al.
Publicado: (2020)

Gait Difficulties and Postural Instability in Adrenoleukodystrophy
por: Godbole, Neha P., et al.
Publicado: (2021)

Bezafibrate for X-Linked Adrenoleukodystrophy
por: Engelen, Marc, et al.
Publicado: (2012)

Pathophysiology of X-linked adrenoleukodystrophy()
por: Berger, J., et al.
Publicado: (2014)

CD1 Gene Polymorphisms and Phenotypic Variability in X-Linked Adrenoleukodystrophy
por: Barbier, Mathieu, et al.
Publicado: (2012)

X-linked adrenoleukodystrophy in 8 patients
por: Meng, Zhe, et al.
Publicado: (2015)

An unusual presentation of X-linked adrenoleukodystrophy
por: Suryawanshi, Avinash, et al.
Publicado: (2015)

Newborn Screening for X-Linked Adrenoleukodystrophy
por: Moser, Ann B., et al.
Publicado: (2016)

Chronic Progressive Spastic Paraparesis: Think of Peroxisomal Disorders - A Case Report of X-Linked Adult Onset Adrenoleukodystrophy With an Update on The Latest Treatment Strategies
por: Kesserwani, Hassan
Publicado: (2020)

Cerebello-cortical functional connectivity may regulate reactive balance control in older adults with mild cognitive impairment
por: Kannan, Lakshmi, et al.
Publicado: (2023)

Glutathione imbalance in patients with X-linked adrenoleukodystrophy()
por: Petrillo, Sara, et al.
Publicado: (2013)

Impaired plasticity of macrophages in X-linked adrenoleukodystrophy
por: Weinhofer, Isabelle, et al.
Publicado: (2018)

Isolated Cerebellar Involvement in X-linked Adrenoleukodystrophy
por: Mansoor, C. A.
Publicado: (2020)

X-linked adrenoleukodystrophy and primary adrenal insufficiency
por: Cappa, Marco, et al.
Publicado: (2023)

Variable Intrafamilial Expression of ABCB4 Disease
por: Zampaglione, Lucia, et al.
Publicado: (2023)

Selective tract abnormality in adrenoleukodystrophy: Uncommon MRI finding
por: Bhatia, Rohit, et al.
Publicado: (2008)

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
por: Jwa, Hye Jeong, et al.
Publicado: (2014)

Management of X-linked adrenoleukodystrophy in Morocco: actual situation
por: Benjelloun, F. Z. Madani, et al.
Publicado: (2017)

The value of the speech audiometry in diagnosis of X-linked adrenoleukodystrophy
por: Chen, Jing-Jing, et al.
Publicado: (2016)

Disease progression in women with X-linked adrenoleukodystrophy is slow
por: Huffnagel, Irene C., et al.
Publicado: (2019)

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
por: Furlan, Fernanda Luiza Schumacher, et al.
Publicado: (2019)

The Role of Oxidative Stress and Inflammation in X-Link Adrenoleukodystrophy
por: Yu, Jiayu, et al.
Publicado: (2022)

Pain Study in X-Linked Adrenoleukodystrophy in Males and Females
por: Bachiocco, Valeria, et al.
Publicado: (2021)

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts
por: Petrillo, Sara, et al.
Publicado: (2022)

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
por: Albersen, Monique, et al.
Publicado: (2022)

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
por: Pavone, Piero, et al.
Publicado: (2022)

Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature
por: Marcu, Andreea Sorina, et al.
Publicado: (2022)

Direct cerebello-striatal loop in dystonia as a possible new target for deep brain stimulation: A revised view of subcortical pathways involved
por: Kaji, Ryuji
Publicado: (2022)

X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder
por: Ilango, T. Siva, et al.
Publicado: (2015)

Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female
por: Jack, Gyda Hlin Skuladottir, et al.
Publicado: (2013)

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
por: Shamim, Daniah, et al.
Publicado: (2017)

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy
por: Jacob, Ron, et al.
Publicado: (2015)

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California
por: Schwan, Katharina, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_0nqsmia745rot5ihpidafclg59